regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP1B3_chr3_141871643_141931549 | 141890285 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 408 | 0.0025 | -13 | c.110 others(32): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110309140 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01255.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0032a0001c0001t0001g0222a0001c0001t0003g0185 | 3 | 228 | 0.0132 | -13 | c.463 others(32): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3923758 | GTGGGCAG others(6): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0134 | 1 | 332 | 0.0030 | -13 | c.*16 others(24): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 114 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3966363 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0034 | a0001c0034t0006 | a0001c0034t0006g0211 | 1 | 332 | 0.0030 | -13 | c.-20 others(24): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89628401 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00738.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0095a0001c0001t0001g0197a0001c0001t0001g0225others(26): Show | 29 | 332 | 0.0874 | -13 | c.929 others(28): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 6/20 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10462710 | AGCTGCCA others(6): Show |
A | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0103 | 1 | 290 | 0.0035 | -13 | c.-31 others(34): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624250 | GAAGGAAA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 318 | 0.0031 | -13 | c.-34 others(24): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2581 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203672324 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0079a0001c0001t0001g0149a0001c0001t0002g0051others(30): Show | 33 | 318 | 0.1038 | -13 | c.-46 others(34): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203672344 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0105 | 1 | 318 | 0.0031 | -13 | c.-46 others(34): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203674637 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02074.hp2 NA18954.hp2 NA19009.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0058a0001c0001t0001g0109a0001c0001t0002g0221others(3): Show | 6 | 318 | 0.0189 | -13 | c.-46 others(32): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130902283 | CGTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01891.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0075a0001c0001t0001g0081others(26): Show | 30 | 382 | 0.0785 | -13 | c.6+7 others(26): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130940905 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0081a0001c0001t0001g0082others(5): Show | 9 | 382 | 0.0236 | -13 | c.422 others(28): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84382894 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00597.hp2 NA18612.hp1 NA18612.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0002 | a0001c0001t0002g0355a0002c0004t0002g0356a0002c0004t0002g0376 | 3 | 432 | 0.0069 | -13 | c.99+ others(30): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84425513 | ATTTGGCT others(6): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02976.hp2 others(3): Show |
a0001a0002a0004 | a0001c0005a0002c0004a0002c0008others(1): Show | a0001c0005t0001a0002c0004t0001a0002c0008t0001others(1): Show | a0001c0005t0001g0066a0001c0005t0001g0353a0002c0004t0001g0182others(3): Show | 6 | 432 | 0.0139 | -13 | c.920 others(28): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP5F1A_chr18_46075248_46103296 | 46081673 | CAAAAAAA others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0104 | 1 | 390 | 0.0026 | -13 | c.*25 others(24): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 12/12 | 2596 | chr18 | TogoVar | |||||
ATP5MC3_chr2_175171258_175186710 | 175174742 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01358.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 390 | 0.0077 | -13 | c.*35 others(24): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 1515 | chr2 | TogoVar | ||||||
ATP5MF_chr7_99453195_99471167 | 99462288 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0075 | 4 | 346 | 0.0116 | -13 | c.32- others(28): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
ATP5MG_chr11_118396606_118414847 | 118400605 | TCCAAACT others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02132.hp2 NA19004.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 3 | 336 | 0.0089 | -13 | c.-10 others(24): Show |
ATP5MG | ENSG00000167283.9 | transcript | ENST00000300688.8 | protein_coding | 1000 | chr11 | TogoVar | ||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(28): Show | 86 | 416 | 0.2067 | -13 | c.-7- others(26): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
ATP6V0A1_chr17_42453878_42527579 | 42484839 | TTTCTTTT others(6): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136 | 1 | 320 | 0.0031 | -13 | c.810 others(30): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATP6V0A1_chr17_42453878_42527579 | 42514662 | CTTCCCTA others(6): Show |
C | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 320 | 0.0031 | -13 | c.242 others(30): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138712243 | TTCCTTAA others(6): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 376 | 0.0027 | -13 | c.225 others(32): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 20/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718276 | GGCGGTGT others(6): Show |
G | intron_variant | MODIFIER | HG02647.hp1 NA18999.hp2 |
a0001a0002 | a0001c0013a0002c0003 | a0001c0013t0001a0002c0003t0002 | a0001c0013t0001g0366a0002c0003t0002g0065 | 2 | 376 | 0.0053 | -13 | c.214 others(32): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138747316 | CTTCTCTC others(6): Show |
C | intron_variant | MODIFIER | HG02040.hp1 NA18973.hp2 |
a0001a0003 | a0001c0007a0003c0004 | a0001c0007t0001a0003c0004t0001 | a0001c0007t0001g0310a0003c0004t0001g0298 | 2 | 376 | 0.0053 | -13 | c.132 others(29): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138789968 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0007others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0024others(199): Show | 202 | 376 | 0.5372 | -13 | c.-12 others(32): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138792773 | TTTTTGTT others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00609.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0014others(4): Show | a0001c0001t0001a0001c0005t0001a0001c0014t0001others(4): Show | a0001c0001t0001g0034a0001c0001t0001g0051a0001c0001t0001g0052others(19): Show | 22 | 376 | 0.0585 | -13 | c.-12 others(32): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70940888 | TTTTTTCT others(6): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp1 HG02055.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0017others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0017t0009others(5): Show | a0001c0001t0001g0123a0001c0005t0001g0197a0001c0017t0009g0124others(18): Show | 21 | 440 | 0.0477 | -13 | c.119 others(30): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10782829 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02257.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0001t0007a0002c0002t0004others(4): Show | a0001c0001t0004g0097a0001c0001t0004g0114a0001c0001t0007g0237others(14): Show | 17 | 354 | 0.0480 | -13 | c.119 others(30): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1D_chr14_67332872_67364804 | 67355449 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 348 | 0.0029 | -13 | c.42- others(28): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17609105 | AAAACAAA others(6): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0243 | 1 | 370 | 0.0027 | -13 | c.276 others(30): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 4/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631691 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 370 | 0.0027 | -13 | c.-30 others(24): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2943 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631693 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 370 | 0.0027 | -13 | c.-30 others(24): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2945 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | ATTTTTTT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG01884.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0020a0001c0001t0003g0226a0001c0001t0004g0222others(1): Show | 4 | 370 | 0.0108 | -13 | c.-30 others(24): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46525464 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0120 | 1 | 410 | 0.0024 | -13 | c.-10 others(34): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46540613 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(250): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(172): Show | 253 | 410 | 0.6171 | -13 | c.-31 others(30): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
ATP6V1FNB_chr7_128861330_128877047 | 128875573 | TAAAAAAA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG02129.hp2 HG03239.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 3 | 442 | 0.0068 | -13 | c.*67 others(24): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 3527 | chr7 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755732 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02004.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0252 | 2 | 286 | 0.0070 | -13 | c.127 others(30): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53761065 | GGTGGCTC others(6): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 286 | 0.0035 | -13 | c.117 others(32): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53765451 | AACAACAC others(6): Show |
A | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 286 | 0.0035 | -13 | c.117 others(32): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42466031 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(48): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0152a0001c0001t0005g0298a0001c0001t0005g0301others(48): Show | 51 | 310 | 0.1645 | -13 | c.232 others(30): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42493912 | ACGAAACG others(6): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0016a0001c0002t0023 | a0001c0002t0005g0191a0001c0002t0016g0026a0001c0002t0016g0032others(1): Show | 4 | 310 | 0.0129 | -13 | c.215 others(32): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555126 | TATCTATC others(6): Show |
T | intron_variant | MODIFIER | HG03139.hp2 NA18962.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0165a0001c0002t0005g0191 | 2 | 310 | 0.0065 | -13 | c.141 others(30): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531396 | GATTATAT others(6): Show |
G | intron_variant | MODIFIER | HG03486.hp2 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0052 | a0001c0003t0008g0010a0001c0003t0052g0113 | 2 | 122 | 0.0164 | -13 | c.420 others(28): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25683159 | ATAGGATG others(6): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01261.hp2 HG02257.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0017a0001c0001t0026a0001c0001t0035others(8): Show | a0001c0001t0017g0051a0001c0001t0026g0090a0001c0001t0035g0043others(8): Show | 11 | 122 | 0.0902 | -13 | c.221 others(34): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25738047 | AGTCTGAA others(6): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0023a0001c0003t0062 | a0001c0002t0023g0013a0001c0003t0062g0024 | 2 | 122 | 0.0164 | -13 | c.238 others(34): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25837426 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG03540.hp2 |
a0001 | a0001c0004a0001c0016 | a0001c0004t0003a0001c0004t0068a0001c0016t0045 | a0001c0004t0003g0007a0001c0004t0068g0071a0001c0016t0045g0105 | 3 | 122 | 0.0246 | -13 | c.287 others(30): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 29/36 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 26009314 | GCTTATTT others(6): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG02622.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0016a0001c0002t0016a0001c0014t0034others(1): Show | a0001c0001t0016g0104a0001c0002t0016g0011a0001c0014t0034g0064others(1): Show | 4 | 122 | 0.0328 | -13 | c.337 others(32): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57672884 | AAGTATAT others(6): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01255.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0002g0200a0001c0001t0002g0289a0001c0001t0005g0013others(4): Show | 7 | 314 | 0.0223 | -13 | c.182 others(32): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672918 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0014 | a0001c0014t0008 | a0001c0014t0008g0123 | 1 | 314 | 0.0032 | -13 | c.182 others(32): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57679395 | TAAAAACA others(6): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 314 | 0.0032 | -13 | c.163 others(32): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar |